Linked Data
ClinVar Variation Id:
2993234
ClinVar RCV Id:
RCV003850329
dbSNP Id:
rs547781197
gnomAD v2:
13-29233227-C-T
gnomAD v3:
13-28659090-C-T
gnomAD v4:
13-28659090-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659090C>T , CM000675.2:g.28659090C>T | GRCh38 |
| NC_000013.10:g.29233227C>T , CM000675.1:g.29233227C>T | GRCh37 |
| NC_000013.9:g.28131227C>T | NCBI36 |
| NG_027550.1:g.5087C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697716.1:c.-180C>T | ENSP00000513414.1:n.-180C>T | |
| NM_015932.5:c.-95C>T | NP_057016.1:n.-95C>T |